A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10103n54



Internal ID22777998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140852761..140855953hg38UCSC Ensembl
chr5:140232346..140235538hg19UCSC Ensembl
chr5:140212530..140215722hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383193
hg193193
hg183193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599889, nsv599888
Samples
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10103n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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